44.全羧化酶合成酶缺乏症............................................................................................................264
45.高同型半胱氨酸血症................................................................................................................268
46.纯合子家族性高胆固醇血症....................................................................................................274
47.亨廷顿病....................................................................................................................................282
48.HHH 综合征(高鸟氨酸血症-高氨血症-同型瓜氨酸尿症)...............................................289
49.高苯丙氨酸血症........................................................................................................................294
50.低磷酸酯酶症............................................................................................................................303
51.低血磷性佝偻病........................................................................................................................309
52.特发性心肌病............................................................................................................................315
53.特发性低促性腺激素性性腺功能减退症............................................................................... 324
54.特发性肺动脉高压....................................................................................................................331
55.特发性肺纤维化........................................................................................................................339
56.IgG4 相关性疾病.......................................................................................................................346
57.先天性胆汁酸合成障碍............................................................................................................351
58.异戊酸血症................................................................................................................................356
59.卡尔曼综合征............................................................................................................................362
60.朗格汉斯细胞组织细胞增生症................................................................................................366
61.莱伦综合征................................................................................................................................371
62.Leber 遗传性视神经病变......................................................................................................... 379
63.长链-3-羟酰基辅酶 A 脱氢酶缺乏症......................................................................................385
64.淋巴管肌瘤病............................................................................................................................389
65.赖氨酸尿蛋白不耐受症............................................................................................................396
66.溶酶体酸性脂肪酶缺乏症........................................................................................................403
67.枫糖尿症....................................................................................................................................408
68.马方综合征................................................................................................................................414
69.McCune-Albright 综合征.......................................................................................................... 420
70.中链酰基辅酶 A 脱氢酶缺乏症...............................................................................................426
71.甲基丙二酸血症........................................................................................................................430
72.线粒体脑肌病............................................................................................................................437
73.黏多糖贮积症............................................................................................................................448
74.多灶性运动神经病....................................................................................................................457
75.多种酰基辅酶 A 脱氢酶缺乏症...............................................................................................463
76.多发性硬化................................................................................................................................468
77.多系统萎缩................................................................................................................................477
78.强直性肌营养不良....................................................................................................................483
79. N-乙酰谷氨酸合成酶缺乏症.................................................................................................. 489
80.新生儿糖尿病............................................................................................................................495
81.视神经脊髓炎............................................................................................................................502
82.尼曼匹克病................................................................................................................................ 511
83.非综合征型耳聋........................................................................................................................518
84.努南综合征................................................................................................................................524
85.鸟氨酸氨甲酰基转移酶缺乏症................................................................................................530
86.成骨不全症................................................................................................................................535
87.帕金森病(青年型、早发型)................................................................................................540